Variant report

Variant	esv12531
Chromosome Location	chr6:75721030-75722640
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181931453	chr6:75721034-75721035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557309476	chr6:75721057-75721058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143339941	chr6:75721069-75721070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs113406858	chr6:75721077-75721078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542302305	chr6:75721083-75721084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs202195120	chr6:75721084-75721085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76645693	chr6:75721085-75721086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560532697	chr6:75721100-75721101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35906515	chr6:75721128-75721129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368875463	chr6:75721179-75721180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572893469	chr6:75721247-75721248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112491582	chr6:75721249-75721250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540266658	chr6:75721259-75721260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148361611	chr6:75721283-75721284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187432033	chr6:75721293-75721294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs140556851	chr6:75721310-75721311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76699410	chr6:75721366-75721367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539759323	chr6:75721388-75721389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549081065	chr6:75721427-75721428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113206862	chr6:75721433-75721434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs75888789	chr6:75721457-75721458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138748912	chr6:75721465-75721466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546633700	chr6:75721499-75721500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113823314	chr6:75721502-75721503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142680326	chr6:75721525-75721526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551109957	chr6:75721533-75721534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115483423	chr6:75721567-75721568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147360657	chr6:75721569-75721570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114221658	chr6:75721574-75721575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138181509	chr6:75721624-75721625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573004532	chr6:75721637-75721638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533768074	chr6:75721641-75721642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558310282	chr6:75721656-75721657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552776961	chr6:75721670-75721671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577026328	chr6:75721689-75721690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544200277	chr6:75721692-75721693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556288453	chr6:75721718-75721719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9447412	chr6:75721730-75721731	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs541649640	chr6:75721731-75721732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs9447413	chr6:75721746-75721747	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs192119548	chr6:75721755-75721756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540191888	chr6:75721766-75721767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564787087	chr6:75721793-75721794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532016100	chr6:75721798-75721799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112303848	chr6:75721806-75721807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113159575	chr6:75721819-75721820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs551010001	chr6:75721837-75721838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113540164	chr6:75721882-75721883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569570367	chr6:75721889-75721890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs80249045	chr6:75721891-75721892	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelodysplastic syndrome	18508791	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:75707800-75721600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr6:75721400-75722000	Enhancers	Stomach Smooth Muscle	stomach
3	chr6:75721600-75721800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:75721600-75722000	Enhancers	Duodenum Smooth Muscle	Duodenum

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